Linked Data
dbSNP Id:
rs781380405
ExAC:
9:125133415 T / C
gnomAD v2:
9-125133415-T-C
gnomAD v4:
9-122371136-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.122371136T>C , CM000671.2:g.122371136T>C | GRCh38 |
| NC_000009.11:g.125133415T>C , CM000671.1:g.125133415T>C | GRCh37 |
| NC_000009.10:g.124173236T>C | NCBI36 |
| NG_032900.1:g.5187T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000362012.7:c.7+45T>C MANE Select | ENSP00000354612.2:n.7+45T>C | |
| ENST00000426608.6:c.7+45T>C | ENSP00000411606.2:n.7+45T>C | |
| ENST00000540753.6:c.-290-50T>C | ENSP00000437709.1:n.-290-50T>C | |
| ENST00000619306.5:c.7+45T>C | ENSP00000483540.2:n.7+45T>C | |
| ENST00000643576.1:n.52T>C | ||
| ENST00000643810.1:c.-320-50T>C | ENSP00000494717.1:n.-320-50T>C | |
| ENST00000645132.1:n.125T>C | ||
| ENST00000647067.1:c.7+45T>C | ENSP00000495728.1:n.7+45T>C | |
| ENST00000223423.8:c.7+45T>C | ENSP00000223423.4:n.7+45T>C | |
| ENST00000362012.6:c.7+45T>C | ENSP00000354612.2:n.7+45T>C | |
| ENST00000540753.5:c.-290-50T>C | ENSP00000437709.1:n.-290-50T>C | |
| ENST00000614910.4:c.7+45T>C | ENSP00000484800.1:n.7+45T>C | |
| ENST00000619306.4:c.52T>C | ENSP00000483540.1:p.Trp18Arg | |
| NM_000962.3:c.7+45T>C | NP_000953.2:n.7+45T>C | |
| NM_001271164.1:c.7+45T>C | NP_001258093.1:n.7+45T>C | |
| NM_001271166.1:c.-320-50T>C | NP_001258095.1:n.-320-50T>C | |
| NM_001271367.1:c.-292+45T>C | NP_001258296.1:n.-292+45T>C | |
| NM_001271368.1:c.-290-50T>C | NP_001258297.1:n.-290-50T>C | |
| NM_080591.2:c.7+45T>C | NP_542158.1:n.7+45T>C | |
| XM_005252105.2:c.-291+45T>C | XP_005252162.1:n.-291+45T>C | |
| XM_011518875.1:c.-290-50T>C | XP_011517177.1:n.-290-50T>C | |
| XM_011518876.1:c.-4152-50T>C | XP_011517178.1:n.-4152-50T>C | |
| XM_005252105.3:c.-291+45T>C | XP_005252162.1:n.-291+45T>C | |
| XM_011518875.2:c.-290-50T>C | XP_011517177.1:n.-290-50T>C | |
| XM_011518876.2:c.-4152-50T>C | XP_011517178.1:n.-4152-50T>C | |
| XM_024447614.1:c.-320-50T>C | XP_024303382.1:n.-320-50T>C | |
| XM_024447615.1:c.-320-50T>C | XP_024303383.1:n.-320-50T>C | |
| NM_000962.4:c.7+45T>C MANE Select | NP_000953.2:n.7+45T>C | |
| NM_001271164.2:c.7+45T>C | NP_001258093.1:n.7+45T>C | |
| NM_001271166.2:c.-320-50T>C | NP_001258095.1:n.-320-50T>C | |
| NM_001271367.2:c.-292+45T>C | NP_001258296.1:n.-292+45T>C | |
| NM_001271368.2:c.-290-50T>C | NP_001258297.1:n.-290-50T>C | |
| NM_080591.3:c.7+45T>C | NP_542158.1:n.7+45T>C |